scholarly journals Vulvar Malignancy in Neurofibromatosis Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Angela Musella ◽  
Innocenza Palaia ◽  
Lavinia Domenici ◽  
Assunta Casorelli ◽  
Angela Martoccia ◽  
...  
Keyword(s):  
Genital Tract ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Neurologic Disorder ◽  
Café Au Lait Spots ◽  
Increased Risk ◽  
Lisch Nodules ◽  
Vulvar Mass

Type 1 neurofibromatosis (NF1) is a dominantly inherited neurologic disorder that affects primarily the skin, bones, and peripheral nervous system. It may be associated with a variety of clinical manifestations including cafe-au-lait spots, skinfold freckling, Lisch nodules, and visceral neurofibromas. Individuals affected by NF1 harbor an increased risk for both benign and malignant tumors. Malignant transformation is usually observed in the form of neurosarcoma. Rarely, NF1 affects the genital tract, and isolated vulvar localization is extremely rare. Here is reported a rare case of a solitary neurosarcoma of the vulva in a 43-year-old woman affected by NF1 syndrome treated with surgical excision. The purpose of this case is to underline the possibility of association between NF1 and genital tract sarcoma and to suggest an accurate evaluation of rapid growth vulvar mass in this setting.

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

1993 ◽  
Vol 107 (1) ◽  
pp. 6-11 ◽  
Author(s):  
W. J. Neary ◽  
V. E. Newton ◽  
M. Vidler ◽  
R. T. Ramsden ◽  
R. H. Lye ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Team Approach ◽  
Clinical Genetic ◽  
Acoustic Neuromas ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Hereditary Disorders

AbstractThe neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of cafe-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades.Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

scholarly journals APPLICATION OF KSHARASUTRA OVER SURGICAL EXCISION OF NEUROFIBROMA (NF1): A CASE REPORT

2021 ◽  
Vol 12 (1) ◽  
pp. 31-33
Author(s):  
Sunil Kumar ◽  
Saurabh Jain ◽  
Rashi Sharma
Keyword(s):  
Genetic Disorder ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Consensus Development ◽  
Consensus Development Conference ◽  
Medial Side ◽  
Café Au Lait Spots

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous tumors of nerves and skin (neurofibromas). Head and neck neurofibroma are generally located in the soft tissue. Here, a case of a 42-year-old man with NF1 has been presented. The disease started in childhood with the appearance of multiple hyperpigmented skin macules. He has generalized freckling and café-au-lait spots all over the body and cutaneous nodules with multiple sizes. The diagnosis of NF1 was made according to presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference. On the basis of symptoms, it was closely related to the Kaphaja Arbuda. Acharya Sushruta mentioned Kshara and Ksharasutra in Arbuda Chikitsa. So, Ksharasutra was tied on the root of one of the neurofibroma size of 4 x 2.5 cm present on medial side of the mid arm. The Fibroma was shed-off completely after 7 days and no recurrence was observed in a follow up at the end of 12 months after application of Ksharasutra.

Neurofibromatosis Type 1

2017 ◽  
Author(s):  
David S. Wolf
Keyword(s):  
Learning Disabilities ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Vascular Abnormalities ◽  
Hyperactivity Disorder ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 is a common, autosomal dominant, monogenetic neurocutaneous disorder. It is characterized by café au lait spots, axillary and inguinal freckling, Lisch nodules, optic pathway gliomas, neurofibromas, and distinctive bony abnormalities. Also associated with this condition are other central nervous system tumors, scoliosis, hypertension, vascular abnormalities, and cognitive issues such as learning disabilities and attention deficit-hyperactivity disorder.

Brugada Syndrome – Report of Familial Occurrence Diagnosed in the Emergency Department

2020 ◽  
Vol 6 (1) ◽  
pp. 17-19
Author(s):  
Mojtaba Fazel ◽  
Fatemeh Hamidi ◽  
Elham Afshari
Keyword(s):  
Emergency Department ◽  
Ventricular Fibrillation ◽  
Rare Disease ◽  
Male Patient ◽  
Brugada Syndrome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
St Segment ◽  
Increased Risk

AbstractIntroduction: Brugada syndrome represents the clinical manifestation of a rare disease with genetic etiology. The syndrome is characterized by ventricular dysrhythmias associated with syncope or sudden cardiac death in the lack of any structural cardiac disease. The diagnosis of Brugada syndrome is established if a type 1 electrocardiographic (ECG) pattern of ST-segment and QRS morphology is present, in association with certain clinical manifestations and/or familial history.Case presentation: A 31-year-old male patient, without any medical history, presented in the emergency department (ED) of a clinical center. His only complaints consisted in palpitations, chest discomfort, and emotional stress related to the recent death of his wife. Earlier on the same day, his wife, a 25-year-old female was brought via emergency medical services (EMS) to the ED after presenting ventricular fibrillation. The female patient presented a long term history of chest pain and one year prior to this episode she presented idiopathic ventricular fibrillation, for which she had undergone implantation of an automated cardioverter defibrillator. As the couple were cousins, the EMS specialist suspected the presence of a familial cardiac disorder. The electrocardiogram of the male patient revealed a coved-type ST-segment elevation of 4 mm in leads V1–V3 compatible with type 1 Brugada syndrome.Conclusion: In case of Brugada syndrome, a genetic disorder associated with increased risk of SCD, the patient's first-degree relatives should be investigated as well, in order to identify the presence of the syndrome and to prevent SCD. As the sole established effective therapeutic measure for patients diagnosed with Brugada syndrome, ICD implantation should be considered in order to decrease the risk of syncope and SCD. This case is particular because a rare disease with familial etiology was identified in both husband and wife, who were cousins.

scholarly journals Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sk. Abdul Mahmud ◽  
Neha Shah ◽  
Moumita Chattaraj ◽  
Swagata Gayen
Keyword(s):  
Family History ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Clinical Findings ◽  
Benign Tumors ◽  
History Of

Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. The histopathologic findings closely mimicked benign fibrous histiocytoma. In our case, definitive diagnosis of neurofibroma was made based on clinical findings, family history, and histopathological and immunohistochemical evaluation. Through this case report we want to emphasize the role of biopsy and immunohistochemistry in arriving at a confirmatory diagnosis. The patient was treated by surgical excision and showed no signs of recurrence over a follow-up period of 12 months.

Unusual clinical manifestations of type 1 neurofibromatosis

2011 ◽  
Vol 152 (49) ◽  
pp. 1965-1970
Author(s):  
Katalin Komlósi ◽  
Noémi Polgár ◽  
Kinga Hadzsiev ◽  
Gábor Ottóffy ◽  
Tamás Illés ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Molecular Genetic Analysis ◽  
Café Au Lait Spots ◽  
Type 1 Neurofibromatosis ◽  
The Central Nervous System ◽  
Neurofibromin 1

Type 1 neurofibromatosis is an autosomal dominant hamartosis caused by mutations of the neurofibromin-1 gene. The classic features of the clinical phenotype include the presence of café-au-lait spots, neurofibromas, axillary and inguinal freckling, Lisch-nodules and deformities of the skeletal system, as well as the risk of developing multiple tumors, especially in the central nervous system. However, it is known from the literature that the phenotypic variability can pose a huge diagnostic difficulty. Aims: Our institute performs molecular genetic testing of the neurofibromin-1 gene since 2008; during this period several unusual phenotypic variants were found. Results, conclusion: The reported four cases represent interesting phenotypic variants or diagnostic challenges in which the final diagnosis was established by molecular genetic analysis. Orv. Hetil., 2011, 152, 1965–1970.

scholarly journals Sporadic Multifocal Venous Malformations of the Head and Neck

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Michael V. Amato ◽  
Neha A. Patel ◽  
Shirley Hu ◽  
Harry Pantelides
Keyword(s):  
Head And Neck ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
International Normalized Ratio ◽  
Neck Mass ◽  
Venous Malformations ◽  
Heparin Administration ◽  
Increased Risk ◽  
D Dimer

Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management.Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient’s buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass.Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy.

scholarly journals Legius Syndrome in a 13 Month Old Boy: A Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Learning Disabilities ◽  
Case Report ◽  
Developmental Delay ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Legius Syndrome

Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/ inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are also known.

scholarly journals Maffucci Syndrome Complicated by Giant Chondrosarcoma in the Left Ankle with an IDH1 R132C Mutation: Case Report

2021 ◽  
Author(s):  
Haiyan Lv ◽  
Hantao Jiang ◽  
Minge Zhang ◽  
Huarong Luo ◽  
Zhenghua Hong ◽  
...  
Keyword(s):  
Case Report ◽  
Malignant Tumors ◽  
Tumor Development ◽  
Clinical Manifestations ◽  
Isocitrate Dehydrogenase 1 ◽  
Maffucci Syndrome ◽  
Left Ankle ◽  
Increased Risk ◽  
Amputation Surgery ◽  
Generation Sequencing

Abstract Background: Maffucci syndrome is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. It is associated with an increased risk of the development of malignant tumors. We present a case of 45-year-old man with Maffucci syndrome to supplement the clinical manifestations and explore the molecular mechanism of Maffucci syndrome.Results: The patient was underwent amputation surgery to inhibit tumor development and diagnosed as Maffucci syndrome with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis by Next Generation Sequencing revealed isocitrate dehydrogenase 1 R132C mutation in chondrosarcoma lesions but not in blood DNA. Conclusions: This case report presents the genetic evidence for the inclusion of chondrosarcoma among tumors characterizing Maffucci syndrome. Consequently, it is suggested that patients with Maffucci syndrome should be followed up more actively to exclude neoplasms due to IDH1 R132C somatic mutation.

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